Canonical Allele Identifier: CA294178336

Gene: AANAT

Linked Data

• dbSNP Id: rs144231136
• gnomAD v2: 17-74465911-G-T
• gnomAD v4: 17-76469829-G-T
• MyVariant Identifiers: chr17:g.74465911G>T (hg19) ; chr17:g.76469829G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469829G>T , CM000679.2:g.76469829G>T	GRCh38
NC_000017.10:g.74465911G>T , CM000679.1:g.74465911G>T	GRCh37
NC_000017.9:g.71977506G>T	NCBI36
NG_015976.1:g.21479G>T
NG_032852.1:g.36599C>A , LRG_532:g.36599C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.483G>T MANE Select	ENSP00000376282.2:p.Glu161Asp
ENST00000250615.7:c.618G>T	ENSP00000250615.2:p.Glu206Asp
ENST00000392492.7:c.483G>T	ENSP00000376282.2:p.Glu161Asp
ENST00000587798.1:c.*260G>T	ENSP00000468239.1:n.*260G>T
NM_001088.2:c.483G>T	NP_001079.1:p.Glu161Asp
NM_001166579.1:c.618G>T	NP_001160051.1:p.Glu206Asp
NR_110548.1:n.794G>T
XM_011524415.1:c.483G>T	XP_011522717.1:p.Glu161Asp
XM_011524416.1:c.690G>T	XP_011522718.1:p.Glu230Asp
XM_011524417.1:c.690G>T	XP_011522719.1:p.Glu230Asp
XM_011524418.1:c.690G>T	XP_011522720.1:p.Glu230Asp
XM_011524419.1:c.690G>T	XP_011522721.1:p.Glu230Asp
XM_011524420.1:c.690G>T	XP_011522722.1:p.Glu230Asp
XM_011524421.1:c.690G>T	XP_011522723.1:p.Glu230Asp
XM_011524422.1:c.573G>T	XP_011522724.1:p.Glu191Asp
XM_011524423.1:c.483G>T	XP_011522725.1:p.Glu161Asp
XM_017024259.1:c.597G>T	XP_016879748.1:p.Glu199Asp
NM_001088.3:c.483G>T MANE Select	NP_001079.1:p.Glu161Asp
NR_110548.2:n.739G>T
NM_001166579.2:c.618G>T	NP_001160051.1:p.Glu206Asp